메뉴 건너뛰기




Volumn 41, Issue 1, 2017, Pages 61-69

Whole exome association of rare deletions in multiplex oral cleft families

(15)  Fu, Jack a   Beaty, Terri H a   Scott, Alan F b   Hetmanski, Jacqueline a   Parker, Margaret M c   Wilson, Joan E Bailey d   Marazita, Mary L e   Mangold, Elisabeth f   Albacha Hejazi, Hasan g   Murray, Jeffrey C h   Bureau, Alexandre i   Carey, Jacob a   Cristiano, Stephen a   Ruczinski, Ingo a   Scharpf, Robert B b  


Author keywords

copy number; multiplex families; oral clefts; rare variants; structural variants

Indexed keywords

ARTICLE; CLEFT LIP; CONTROLLED STUDY; DUSP22 GENE; EXOME; GENE; GENE DELETION; GENE LOCUS; GENE SEQUENCE; GENETIC ASSOCIATION; GENETIC RISK; GENETIC VARIABILITY; GENOTYPE; HEMIZYGOTE; HUMAN; OFC1 GENE; POLYMERASE CHAIN REACTION; SINGLE NUCLEOTIDE POLYMORPHISM; SINGLE NUCLEOTIDE VARIANT; TPTE2P3 GENE; ALGORITHM; CLEFT PALATE; FAMILY; FEMALE; GENETIC VARIATION; GENETICS; HIGH THROUGHPUT SEQUENCING; HUMAN GENOME; MALE;

EID: 85005992319     PISSN: 07410395     EISSN: 10982272     Source Type: Journal    
DOI: 10.1002/gepi.22010     Document Type: Article
Times cited : (10)

References (39)
  • 1
    • 77958088279 scopus 로고    scopus 로고
    • Rare variant association analysis methods for complex traits
    • #x0026;, Retrieved from
    • Asimit, J., & Zeggini, E. (2010). Rare variant association analysis methods for complex traits. Annual Review of Genetics, 44, 293–308. Retrieved from http://www.dx.doi.org/10.1146/annurev-genet-102209-163421
    • (2010) Annual Review of Genetics , vol.44 , pp. 293-308
    • Asimit, J.1    Zeggini, E.2
  • 3
    • 52949129447 scopus 로고    scopus 로고
    • A robust statistical method for case-control association testing with copy number variation
    • #x0026;, October).
    • Barnes, C., Plagnol, V., Fitzgerald, T., Redon, R., Marchini, J., Clayton, D., & Hurles, M. E. (2008, October). A robust statistical method for case-control association testing with copy number variation. Nature Genetics, 40(10), 1245–1252. http://www.dx.doi.org/10.1038/ng.206
    • (2008) Nature Genetics , vol.40 , Issue.10 , pp. 1245-1252
    • Barnes, C.1    Plagnol, V.2    Fitzgerald, T.3    Redon, R.4    Marchini, J.5    Clayton, D.6    Hurles, M.E.7
  • 4
    • 78650664541 scopus 로고    scopus 로고
    • A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia
    • #x0026;, January)., Retrieved from
    • Bedoyan, J. K., Lesperance, M. M., Ackley, T., Iyer, R. K., Innis, J. W., & Misra, V. K., (2011, January). A complex 6p25 rearrangement in a child with multiple epiphyseal dysplasia. American Journal of Medical Genetics: Part A, 155A(1), 154–163. Retrieved from http://www.dx.doi.org/10.1002/ajmg.a.33751
    • (2011) American Journal of Medical Genetics: Part A , vol.155A , Issue.1 , pp. 154-163
    • Bedoyan, J.K.1    Lesperance, M.M.2    Ackley, T.3    Iyer, R.K.4    Innis, J.W.5    Misra, V.K.6
  • 5
    • 84904246196 scopus 로고    scopus 로고
    • Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts
    • July)., Retrieved from
    • Bureau, A., Parker, M. M., Ruczinski, I., Taub, M. A., Marazita, M. L., Murray, J. C., … Beaty, T. H. (2014, July). Whole exome sequencing of distant relatives in multiplex families implicates rare variants in candidate genes for oral clefts. Genetics, 197(3), 1039–1044. Retrieved from http://www.dx.doi.org/10.1534/genetics.114.165225
    • (2014) Genetics , vol.197 , Issue.3 , pp. 1039-1044
    • Bureau, A.1    Parker, M.M.2    Ruczinski, I.3    Taub, M.A.4    Marazita, M.L.5    Murray, J.C.6    Beaty, T.H.7
  • 6
    • 84904246839 scopus 로고    scopus 로고
    • Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives
    • August)., Retrieved from
    • Bureau, A., Younkin, S. G., Parker, M. M., Bailey-Wilson, J. E., Marazita, M. L., Murray, J. C., … Ruczinski, I. (2014, August). Inferring rare disease risk variants based on exact probabilities of sharing by multiple affected relatives. Bioinformatics, 30(15), 2189–2196. Retrieved from http://www.dx.doi.org/10.1093/bioinformatics/btu198
    • (2014) Bioinformatics , vol.30 , Issue.15 , pp. 2189-2196
    • Bureau, A.1    Younkin, S.G.2    Parker, M.M.3    Bailey-Wilson, J.E.4    Marazita, M.L.5    Murray, J.C.6    Ruczinski, I.7
  • 7
    • 84886058564 scopus 로고    scopus 로고
    • BlackOPs: Increasing confidence in variant detection through mappability filtering
    • October)., Retrieved from
    • Cabanski, C. R., Wilkerson, M. D., Soloway, M., Parker, J. S., Liu, J., Prins, J. F., … Hayes, D. N. (2013, October). BlackOPs: Increasing confidence in variant detection through mappability filtering. Nucleic Acids Research, 41(19), e178. Retrieved from http://www.dx.doi.org/10.1093/nar/gkt692
    • (2013) Nucleic Acids Research , vol.41 , Issue.19
    • Cabanski, C.R.1    Wilkerson, M.D.2    Soloway, M.3    Parker, J.S.4    Liu, J.5    Prins, J.F.6    Hayes, D.N.7
  • 8
    • 80051809428 scopus 로고    scopus 로고
    • Bayesian hierarchical mixture modeling to assign copy number from a targeted CNV array
    • #x0026;, September)., Retrieved from
    • Cardin, N., Holmes, C., Wellcome Trust Case Control Consortium, Donnelly, P., & Marchini, J., (2011, September). Bayesian hierarchical mixture modeling to assign copy number from a targeted CNV array. Genetic Epidemiology, 35(6), 536–548. Retrieved from http://www.dx.doi.org/10.1002/gepi.20604
    • (2011) Genetic Epidemiology , vol.35 , Issue.6 , pp. 536-548
    • Cardin, N.1    Holmes, C.2    Donnelly, P.3    Marchini, J.4
  • 9
    • 84884325991 scopus 로고    scopus 로고
    • A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene
    • Chen, C.-P., Lin, S.-P., Chern, S.-R., Wu, P.-S., Su, J.-W., & Wang, W. (2013). A boy with cleft palate, hearing impairment, microcephaly, micrognathia and psychomotor retardation and a microdeletion in 6p25.3 involving the DUSP22 gene. Genetic Counseling, 24(2), 243–246.
    • (2013) Genetic Counseling , vol.24 , Issue.2 , pp. 243-246
    • Chen, C.-P.1    Lin, S.-P.2    Chern, S.-R.3    Wu, P.-S.4    Su, J.-W.5    Wang, W.6
  • 10
    • 0041974049 scopus 로고
    • Marginal likelihood from the Gibbs output
    • Chib, S. (1995). Marginal likelihood from the Gibbs output. Journal of the American Statistical Association, 90(432), 1313–1321.
    • (1995) Journal of the American Statistical Association , vol.90 , Issue.432 , pp. 1313-1321
    • Chib, S.1
  • 11
    • 77953807605 scopus 로고    scopus 로고
    • Common genetic variation and performance on standardized cognitive tests
    • #x0026;, July)., Retrieved from
    • Cirulli, E. T., Kasperavicite, D., Attix, D. K., Need, A. C., Ge, D., Gibson, G., & Goldstein, D. B. (2010, July). Common genetic variation and performance on standardized cognitive tests. European Journal of Human Genetics, 18(7), 815–820. Retrieved from http://www.dx.doi.org/10.1038/ejhg.2010.2
    • (2010) European Journal of Human Genetics , vol.18 , Issue.7 , pp. 815-820
    • Cirulli, E.T.1    Kasperavicite, D.2    Attix, D.K.3    Need, A.C.4    Ge, D.5    Gibson, G.6    Goldstein, D.B.7
  • 12
    • 84947288087 scopus 로고    scopus 로고
    • Weighted score tests implementing model-averaging schemes in detection of rare variants in case-control studies
    • #x0026;, Retrieved from
    • Coombes, B., Basu, S., Guha, S., & Schork, N. (2015). Weighted score tests implementing model-averaging schemes in detection of rare variants in case-control studies. PLoS One, 10(10), e0139355. Retrieved from http://www.dx.doi.org/10.1371/journal.pone.0139355
    • (2015) PLoS One , vol.10 , Issue.10
    • Coombes, B.1    Basu, S.2    Guha, S.3    Schork, N.4
  • 13
    • 0028816146 scopus 로고
    • Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region
    • January).
    • Davies, A. F., Stephens, R. J., Olavesen, M. G., Heather, L., Dixon, M. J., Magee, A., … Ragoussis, J. (1995, January). Evidence of a locus for orofacial clefting on human chromosome 6p24 and STS content map of the region. Human Molecular Genetics, 4(1), 121–128.
    • (1995) Human Molecular Genetics , vol.4 , Issue.1 , pp. 121-128
    • Davies, A.F.1    Stephens, R.J.2    Olavesen, M.G.3    Heather, L.4    Dixon, M.J.5    Magee, A.6    Ragoussis, J.7
  • 14
    • 84855989774 scopus 로고    scopus 로고
    • Fast computation and applications of genome mappability
    • #x0026;, Retrieved from
    • Derrien, T., Estellé, J., Marco Sola, S., Knowles, D. G., Raineri, E., Guigó, R., & Ribeca, P. (2012). Fast computation and applications of genome mappability. PLoS One, 7(1), e30377. Retrieved from http://www.dx.doi.org/10.1371/journal.pone.0030377
    • (2012) PLoS One , vol.7 , Issue.1
    • Derrien, T.1    Estellé, J.2    Marco Sola, S.3    Knowles, D.G.4    Raineri, E.5    Guigó, R.6    Ribeca, P.7
  • 15
    • 84926253727 scopus 로고    scopus 로고
    • A statistical approach for rare-variant association testing in affected sibships
    • April)., Retrieved from
    • Epstein, M. P., Duncan, R., Ware, E. B., Jhun, M. A., Bielak, L. F., Zhao, W., … Satten, G. A. (2015, April). A statistical approach for rare-variant association testing in affected sibships. American Journal of Human Genetics, 96(4), 543–554. Retrieved from http://www.dx.doi.org/10.1016/j.ajhg.2015.01.020
    • (2015) American Journal of Human Genetics , vol.96 , Issue.4 , pp. 543-554
    • Epstein, M.P.1    Duncan, R.2    Ware, E.B.3    Jhun, M.A.4    Bielak, L.F.5    Zhao, W.6    Satten, G.A.7
  • 16
    • 84928069278 scopus 로고    scopus 로고
    • Methods for association analysis and meta-analysis of rare variants in families
    • May)., Retrieved from
    • Feng, S., Pistis, G., Zhang, H., Zawistowski, M., Mulas, A., Zoledziewska, M., … Abecasis, G. R. (2015, May). Methods for association analysis and meta-analysis of rare variants in families. Genetic Epidemiology, 39(4), 227–238. Retrieved from http://www.dx.doi.org/10.1002/gepi.21892
    • (2015) Genetic Epidemiology , vol.39 , Issue.4 , pp. 227-238
    • Feng, S.1    Pistis, G.2    Zhang, H.3    Zawistowski, M.4    Mulas, A.5    Zoledziewska, M.6    Abecasis, G.R.7
  • 17
    • 79958077854 scopus 로고    scopus 로고
    • Detecting rare and common variants for complex traits: Sibpair and odds ratio weighted sum statistics (SPWSS, ORWSS)
    • #x0026;, July)., Retrieved from
    • Feng, T., Elston, R. C., & Zhu, X. (2011, July). Detecting rare and common variants for complex traits: Sibpair and odds ratio weighted sum statistics (SPWSS, ORWSS). Genetic Epidemiology, 35(5), 398–409. Retrieved from http://www.dx.doi.org/10.1002/gepi.20588
    • (2011) Genetic Epidemiology , vol.35 , Issue.5 , pp. 398-409
    • Feng, T.1    Elston, R.C.2    Zhu, X.3
  • 18
    • 84867280219 scopus 로고    scopus 로고
    • Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth
    • October)., Retrieved from
    • Fromer, M., Moran, J. L., Chambert, K., Banks, E., Bergen, S. E., Ruderfer, D. M., … Purcell, S. M. (2012, October). Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth. American Journal of Human Genetics, 91(4), 597–607. Retrieved from http://www.dx.doi.org/10.1016/j.ajhg.2012.08.005
    • (2012) American Journal of Human Genetics , vol.91 , Issue.4 , pp. 597-607
    • Fromer, M.1    Moran, J.L.2    Chambert, K.3    Banks, E.4    Bergen, S.E.5    Ruderfer, D.M.6    Purcell, S.M.7
  • 19
    • 84905694066 scopus 로고    scopus 로고
    • Using XHMM software to detect copy number variation in whole-exome sequencing data
    • #x0026;, Retrieved from
    • Fromer, M., & Purcell, S. M. (2014). Using XHMM software to detect copy number variation in whole-exome sequencing data. Current Protocols in Human Genetics, 81, 7.23.1–7.2321. Retrieved from http://www.dx.doi.org/10.1002/0471142905.hg0723s81
    • (2014) Current Protocols in Human Genetics , vol.81 , pp. 7.23.1-7.2321
    • Fromer, M.1    Purcell, S.M.2
  • 20
    • 84941023992 scopus 로고    scopus 로고
    • Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy
    • August)., Retrieved from
    • Gonzaga-Jauregui, C., Harel, T., Gambin, T., Kousi, M., Griffin, L. B., Francescatto, … Lupski, J. R. (2015, August). Exome sequence analysis suggests that genetic burden contributes to phenotypic variability and complex neuropathy. Cell Reports, 12(7), 1169–1183. Retrieved from http://www.dx.doi.org/10.1016/j.celrep.2015.07.023
    • (2015) Cell Reports , vol.12 , Issue.7 , pp. 1169-1183
    • Gonzaga-Jauregui, C.1    Harel, T.2    Gambin, T.3    Kousi, M.4    Griffin, L.B.5    Lupski, J.R.6
  • 21
    • 0036226603 scopus 로고    scopus 로고
    • BLAT–the BLAST-like alignment tool
    • April)., Retrieved from, Article published online before March 2002
    • Kent, W. J. (2002, April). BLAT–the BLAST-like alignment tool. Genome Research, 12(4), 656–664. Retrieved from http://www.dx.doi.org/10.1101/gr.229202. Article published online before March 2002
    • (2002) Genome Research , vol.12 , Issue.4 , pp. 656-664
    • Kent, W.J.1
  • 22
    • 84946752646 scopus 로고    scopus 로고
    • Statistical selection strategy for risk and protective rare variants associated with complex traits
    • #x0026;, October)., Retrieved from
    • Kim, S., Lee, K., & Sun, H. (2015, October). Statistical selection strategy for risk and protective rare variants associated with complex traits. Journal of Computational Biology, 22(11), 1034–1043. Retrieved from http://www.dx.doi.org/10.1089/cmb.2015.0091
    • (2015) Journal of Computational Biology , vol.22 , Issue.11 , pp. 1034-1043
    • Kim, S.1    Lee, K.2    Sun, H.3
  • 23
    • 78651447845 scopus 로고    scopus 로고
    • The uniqueome: A mappability resource for short-tag sequencing
    • #x0026;, January)., Retrieved from
    • Koehler, R., Issac, H., Cloonan, N., & Grimmond, S. M. (2011, January). The uniqueome: A mappability resource for short-tag sequencing. Bioinformatics, 27(2), 272–274. Retrieved from http://www.dx.doi.org/10.1093/bioinformatics/btq640
    • (2011) Bioinformatics , vol.27 , Issue.2 , pp. 272-274
    • Koehler, R.1    Issac, H.2    Cloonan, N.3    Grimmond, S.M.4
  • 24
    • 84864609288 scopus 로고    scopus 로고
    • Copy number variation detection and genotyping from exome sequence data
    • August)., Retrieved from
    • Krumm, N., Sudmant, P. H., Ko, A., O'Roak, B. J., Malig, M., Coe, B. P., … Eichler, E. E. (2012, August). Copy number variation detection and genotyping from exome sequence data. Genome Research, 22(8), 1525–1532. Retrieved from http://www.dx.doi.org/10.1101/gr.138115.112
    • (2012) Genome Research , vol.22 , Issue.8 , pp. 1525-1532
    • Krumm, N.1    Sudmant, P.H.2    Ko, A.3    O'Roak, B.J.4    Malig, M.5    Coe, B.P.6    Eichler, E.E.7
  • 25
    • 67649884743 scopus 로고    scopus 로고
    • Fast and accurate short read alignment with Burrows-Wheeler transform
    • #x0026;, July)., Retrieved from
    • Li, H., & Durbin, R. (2009, July). Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics, 25(14), 1754–1760. Retrieved from http://www.dx.doi.org/10.1093/bioinformatics/btp324
    • (2009) Bioinformatics , vol.25 , Issue.14 , pp. 1754-1760
    • Li, H.1    Durbin, R.2
  • 26
    • 84934437351 scopus 로고    scopus 로고
    • Robust and powerful affected sibpair test for rare variant association
    • #x0026;, July)., Retrieved from
    • Lin, K.-H., & Zöllner, S. (2015, July). Robust and powerful affected sibpair test for rare variant association. Genetic Epidemiology, 39(5), 325–333. Retrieved from http://www.dx.doi.org/10.1002/gepi.21903
    • (2015) Genetic Epidemiology , vol.39 , Issue.5 , pp. 325-333
    • Lin, K.-H.1    Zöllner, S.2
  • 28
    • 61449168010 scopus 로고    scopus 로고
    • A groupwise association test for rare mutations using a weighted sum statistic
    • #x0026;, February)., Retrieved from
    • Madsen, B. E., & Browning, S. R. (2009, February). A groupwise association test for rare mutations using a weighted sum statistic. PLoS Genet, 5(2), e1000384. Retrieved from http://www.dx.doi.org/10.1371/journal.pgen.1000384
    • (2009) PLoS Genet , vol.5 , Issue.2
    • Madsen, B.E.1    Browning, S.R.2
  • 29
    • 42949174747 scopus 로고    scopus 로고
    • Breaking the waves: Improved detection of copy number variation from microarray-based comparative genomic hybridization
    • Retrieved from
    • Marioni, J. C., Thorne, N. P., Valsesia, A., Fitzgerald, T., Redon, R., Fiegler, H., … Hurles, M. E. (2007). Breaking the waves: Improved detection of copy number variation from microarray-based comparative genomic hybridization. Genome Biology, 8(10), R228. Retrieved from http://www.dx.doi.org/10.1186/gb-2007-8-10-r228
    • (2007) Genome Biology , vol.8 , Issue.10 , pp. R228
    • Marioni, J.C.1    Thorne, N.P.2    Valsesia, A.3    Fitzgerald, T.4    Redon, R.5    Fiegler, H.6    Hurles, M.E.7
  • 31
    • 3543105225 scopus 로고    scopus 로고
    • Circular binary segmentation for the analysis of array-based DNA copy number data
    • #x0026;, October)., Retrieved from
    • Olshen, A. B., Venkatraman, E. S., Lucito, R., & Wigler, M. (2004, October). Circular binary segmentation for the analysis of array-based DNA copy number data. Biostatistics, 5(4), 557–72. Retrieved from http://www.dx.doi.org/10.1093/biostatistics/kxh008
    • (2004) Biostatistics , vol.5 , Issue.4 , pp. 557-572
    • Olshen, A.B.1    Venkatraman, E.S.2    Lucito, R.3    Wigler, M.4
  • 32
    • 84959914384 scopus 로고    scopus 로고
    • Clamms: A scalable algorithm for calling common and rare copy number variants from exome sequencing data
    • January)., Retrieved from
    • Packer, J. S., Maxwell, E. K., O'Dushlaine, C., Lopez, A. E., Dewey, F. E., Chernomorsky, R., … Reid, J. G. (2016, January). Clamms: A scalable algorithm for calling common and rare copy number variants from exome sequencing data. Bioinformatics, 32(1), 133–135. Retrieved from http://www.dx.doi.org/10.1093/bioinformatics/btv547
    • (2016) Bioinformatics , vol.32 , Issue.1 , pp. 133-135
    • Packer, J.S.1    Maxwell, E.K.2    O'Dushlaine, C.3    Lopez, A.E.4    Dewey, F.E.5    Chernomorsky, R.6    Reid, J.G.7
  • 33
    • 79959397907 scopus 로고    scopus 로고
    • Joint segmentation, calling, and normalization of multiple CGH profiles
    • #x0026;, July)., Retrieved from
    • Picard, F., Lebarbier, E., Hoebeke, M., Rigaill, G., Thiam, B., & Robin, S. (2011, July). Joint segmentation, calling, and normalization of multiple CGH profiles. Biostatistics, 12(3), 413–428. Retrieved from http://www.dx.doi.org/10.1093/biostatistics/kxq076
    • (2011) Biostatistics , vol.12 , Issue.3 , pp. 413-428
    • Picard, F.1    Lebarbier, E.2    Hoebeke, M.3    Rigaill, G.4    Thiam, B.5    Robin, S.6
  • 34
    • 61449142536 scopus 로고    scopus 로고
    • Midline orofacial cleft defects in association with type 1 Duane's retraction syndrome
    • March)., Retrieved from
    • Pilon, A. F. (2009, March). Midline orofacial cleft defects in association with type 1 Duane's retraction syndrome. Clinical and Experimental Optometry, 92(2), 133–136. Retrieved from http://www.dx.doi.org/10.1111/j.1444-0938.2008.00311.x
    • (2009) Clinical and Experimental Optometry , vol.92 , Issue.2 , pp. 133-136
    • Pilon, A.F.1
  • 35
    • 84870924545 scopus 로고    scopus 로고
    • Fast detection of de novo copy number variants from SNP arrays for case-parent trios
    • #x0026;, December)., Retrieved from
    • Scharpf, R. B., Beaty, T. H., Schwender, H., Younkin, S. G., Scott, A. F., & Ruczinski, I. (2012, December). Fast detection of de novo copy number variants from SNP arrays for case-parent trios. BMC Bioinformatics, 13(1), 330. Retrieved from http://www.dx.doi.org/10.1186/1471-2105-13-330
    • (2012) BMC Bioinformatics , vol.13 , Issue.1 , pp. 330
    • Scharpf, R.B.1    Beaty, T.H.2    Schwender, H.3    Younkin, S.G.4    Scott, A.F.5    Ruczinski, I.6
  • 36
    • 84868016827 scopus 로고    scopus 로고
    • Statistical challenges associated with detecting copy number variations with next-generation sequencing
    • #x0026;, November)., Retrieved from
    • Teo, S. M., Pawitan, Y., Ku, C. S., Chia, K. S., & Salim, A. (2012, November). Statistical challenges associated with detecting copy number variations with next-generation sequencing. Bioinformatics, 28(21), 2711–2718. Retrieved from http://www.dx.doi.org/10.1093/bioinformatics/bts535
    • (2012) Bioinformatics , vol.28 , Issue.21 , pp. 2711-2718
    • Teo, S.M.1    Pawitan, Y.2    Ku, C.S.3    Chia, K.S.4    Salim, A.5
  • 37
    • 84876670514 scopus 로고    scopus 로고
    • Systematic biases in DNA copy number originate from isolation procedures
    • April)., Retrieved from
    • van Heesch, S., Mokry, M., Boskova, V., Junker, W., Mehon, R., Toonen, P., … Guryev, V. (2013, April). Systematic biases in DNA copy number originate from isolation procedures. Genome Biology, 14(4), R33. Retrieved from http://www.dx.doi.org/10.1186/gb-2013-14-4-r33
    • (2013) Genome Biology , vol.14 , Issue.4 , pp. R33
    • van Heesch, S.1    Mokry, M.2    Boskova, V.3    Junker, W.4    Mehon, R.5    Toonen, P.6    Guryev, V.7
  • 38
    • 84866730927 scopus 로고    scopus 로고
    • The role of large pedigrees in an era of high-throughput sequencing
    • October)., Retrieved from
    • Wijsman, E. M. (2012, October). The role of large pedigrees in an era of high-throughput sequencing. Human Genetics, 131(10), 1555–1563. Retrieved from http://www.dx.doi.org/10.1007/s00439-012-1190-2
    • (2012) Human Genetics , vol.131 , Issue.10 , pp. 1555-1563
    • Wijsman, E.M.1
  • 39
    • 80051499915 scopus 로고    scopus 로고
    • Rare-variant association testing for sequencing data with the sequence kernel association test
    • #x0026;, July)., Retrieved from
    • Wu, M. C., Lee, S., Cai, T., Li, Y., Boehnke, M., & Lin, X. (2011, July). Rare-variant association testing for sequencing data with the sequence kernel association test. American Journal of Human Genetics, 89(1), 82–93. Retrieved from http://www.dx.doi.org/10.1016/j.ajhg.2011.05.029
    • (2011) American Journal of Human Genetics , vol.89 , Issue.1 , pp. 82-93
    • Wu, M.C.1    Lee, S.2    Cai, T.3    Li, Y.4    Boehnke, M.5    Lin, X.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.